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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.V182V

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GJB2

NM_004004.6:p.V182V

hg38:chr13:20189036 C>T

Associated Papers

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

Tlili A et al.

Genes, 2024

38790217 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."